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American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 15-16

Invited editorial comment-the human phenotype of germline PIGA mutations

(1) Biesecker, Leslie G a

a NONE (United States)

Author keywords

Exome sequencing; Genotype phenotype; PIGA

Indexed keywords

AMINO ACID SUBSTITUTION; CLINICAL FEATURE; EDITORIAL; EXOME; GENE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MUTATIONAL ANALYSIS; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; PHENOTYPIC VARIATION; PIGA GENE; PLEIOTROPY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; BLOOD; DEMYELINATING DISEASE; DEVELOPMENTAL DISORDER; GENETICS; GERMLINE MUTATION; INFANTILE SPASM; IRON OVERLOAD; MALE; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; X CHROMOSOME LINKED DISORDER;

ALKALINE PHOSPHATASE; MEMBRANE PROTEIN; PHOSPHATIDYLINOSITOL GLYCAN-CLASS A PROTEIN;

ABNORMALITIES, MULTIPLE; ALKALINE PHOSPHATASE; DEVELOPMENTAL DISABILITIES; GENETIC DISEASES, X-LINKED; GERM-LINE MUTATION; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; PHENOTYPE; SPASMS, INFANTILE;

EID: 84890805849 PISSN: 15524825 EISSN: 15524833 Source Type: Journal
DOI: 10.1002/ajmg.a.36213 Document Type: Editorial

Times cited : (4)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.